Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.020 1.000 2 2010 2016
dbSNP: rs71019893
rs71019893
PSMD13 ; SIRT3
1 1.000 0.080 11 236380 intron variant -/CCCGCGGC ins 5.0E-03; 0.10 1.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2008 2012
dbSNP: rs1332329
rs1332329
LIPA
1 1.000 0.080 10 89243662 intron variant A/C snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs1333048
rs1333048
CDKN2B-AS1
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.700 1.000 1 2007 2007
dbSNP: rs3917010
rs3917010
VCAM1
1 1.000 0.080 1 100725310 intron variant A/C snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs55791371
rs55791371
SMARCA4
3 0.925 0.080 19 11077477 intron variant A/C snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs6809699
rs6809699
P2RY12 ; MED12L
2 1.000 0.080 3 151338810 synonymous variant A/C snv 0.87 0.88 0.010 < 0.001 1 2008 2008
dbSNP: rs8089
rs8089
THBS2 ; LOC101929523
4 0.851 0.080 6 169217631 splice region variant A/C snv 0.22 0.010 < 0.001 1 2011 2011
dbSNP: rs72664207
rs72664207
ABCC6
6 0.882 0.240 16 16185039 splice region variant A/C snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs2943634
rs2943634 		15 0.763 0.200 2 226203364 intergenic variant A/C;G snv 0.030 1.000 3 2010 2012
dbSNP: rs11574915
rs11574915
CCL21
1 1.000 0.080 9 34710087 5 prime UTR variant A/C;G snv 0.13; 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs2123731
rs2123731
UHRF1
1 1.000 0.080 19 4929461 missense variant A/C;G snv 8.1E-06; 0.30 0.700 1.000 1 2011 2011
dbSNP: rs35706870
rs35706870
SIRT1
1 1.000 0.080 10 67883859 upstream gene variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs7421388
rs7421388
PLCL1
2 0.925 0.080 2 198223806 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs963968092
rs963968092
EDNRA
3 0.882 0.120 4 147485844 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.030 1.000 3 2004 2016
dbSNP: rs17465637
rs17465637
MIA3
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.840 1.000 5 2008 2012
dbSNP: rs1144507
rs1144507
ZNF202
2 0.925 0.080 11 123729767 missense variant A/C;G;T snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs2019090
rs2019090 		1 1.000 0.080 11 103798234 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3786954
rs3786954
KCNN4
1 1.000 0.080 19 43768194 intron variant A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs4407312
rs4407312
CST2
1 1.000 0.080 20 23826391 intron variant A/C;G;T snv 0.76; 4.1E-06; 6.6E-05 0.700 1.000 1 2011 2011
dbSNP: rs1271572
rs1271572
ESR2
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.020 1.000 2 2007 2008
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.020 1.000 2 2017 2020
dbSNP: rs2271800
rs2271800
CYP2J2
1 1.000 0.080 1 59907994 intron variant A/C;T snv 0.010 1.000 1 2010 2010